Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

Publication date: Available online 17 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B. Wortmann, Anne Jonge Poerink, Stephanie Grunewald, Ellen Crushell, Lihadh Al-Gazali, Maaike C. de Vries, Lars Mørkrid, Jozef Hertecant, Katja S. Brocke Holmefjord, David Kronn, Annette Feigenbaum, Ralph Fingerhut, Sunnie Y. Wong, Monique van Scherpenzeel, Nicol C. Voermans, Dirk J. Lefeber
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research